Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P131 CCM mix-B probemix - 100 reactions

SALSA MLPA P131 CCM mix-B probemix - 100 reactions

SALSA MLPA P131 CCM mix-B probemix - 100 reactions

application: Cerebral Cavernous Malformations (CCM)
region: CCM 7q21 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P131-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P131 CCM mix-B probemix - 100 reactions

P131-100R SALSA MLPA P131 CCM mix-B probemix – 100 rxn

Cerebral cavernous malformations (CCM) are vascular malformations, mostly located in the central nervous system, which occur in 0.1-0.5% of the population. They are characterized by abnormally enlarged and often leaking capillary cavities without intervening neural parenchyma. Some are clinically silent, whereas others cause seizures, intracerebral haemorrhage or focal neurological deficits. These vascular malformations can arise sporadically or may be inherited as an autosomal dominant condition with incomplete penetrance. Three loci are associated with autosomal dominant CCM, and the causative genes have been identified for KRIT1 (CCM1) and CCM2. The recent implication of the PDCD10 (CCM3) gene in cerebral cavernous malformations strongly suggested that it is a new player in vascular morphogenesis and/or remodelling.

The KRIT1 (CCM1) gene (19 exons) spans ~47 kb of genomic DNA and is located on 7q21, ~92 Mb from the p-telomere. The CCM2 gene (12 exons) spans ~76 kb of genomic DNA and is located on 7p13, ~45 Mb from the p-telomere. The PDCD10 (CCM3) gene (10 exons) spans ~51 kb of genomic DNA and is located on 3q26, 167 Mb from the p-telomere. The P130-A2/P131-A2 probemixes can be used to detect copy number changes of most exons of the KRIT1, CCM2 and PDCD10 genes.

The P130-A2 probemix contains probes for 9 of the 19 exons of KRIT1 gene and one probe for every exon of the CCM2 gene (2 probes for exon 4) with the exception of exon 1. In addition, 19 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

The P131-A2 probemix contains probes for 10 of the 19 exons of KRIT1 gene and one probe for every exon of the PDCD10 gene. In addition, 18 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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